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Added FunctionVariant draft to schema/cat-vrs/recipe-source.yml, whic…
…h also involved added drafting FunctionConstraint and GeneContextConstraint to schema/cat-vrs/def and schema/cat-vrs/json.
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.. note:: This data class is at a **draft** maturity level and may \ | ||
change in future releases. Maturity \ | ||
levels are described in the :ref:`maturity-model`. | ||
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**Computational Definition** | ||
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A categorical label of the function change that members of this categorical variant satisfies. | ||
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**Information Model** | ||
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Some FunctionConstraint attributes are inherited from :ref:`Constraint`. | ||
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.. list-table:: | ||
:class: clean-wrap | ||
:header-rows: 1 | ||
:align: left | ||
:widths: auto | ||
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* - Field | ||
- Flags | ||
- Type | ||
- Limits | ||
- Description | ||
* - type | ||
- | ||
- string | ||
- 1..1 | ||
- MUST be "FunctionConstraint" | ||
* - functionConsequence | ||
- | ||
- string | ||
- 1..1 | ||
- A categorical label of the function change that members of this categorical variant satisfies, using ontology terms from [The Sequence Ontology](http://www.sequenceontology.org). |
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.. note:: This data class is at a **draft** maturity level and may \ | ||
change in future releases. Maturity \ | ||
levels are described in the :ref:`maturity-model`. | ||
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||
**Computational Definition** | ||
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A free-text description of the gene context that members of this categorical variant satisfies. | ||
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**Information Model** | ||
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Some FunctionConstraint attributes are inherited from :ref:`Constraint`. | ||
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.. list-table:: | ||
:class: clean-wrap | ||
:header-rows: 1 | ||
:align: left | ||
:widths: auto | ||
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||
* - Field | ||
- Flags | ||
- Type | ||
- Limits | ||
- Description | ||
* - type | ||
- | ||
- string | ||
- 1..1 | ||
- MUST be "GeneContextConstraint" | ||
* - geneContext | ||
- | ||
- string | ||
- 1..1 | ||
- A gene identifier. |
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{ | ||
"$schema": "https://json-schema.org/draft/2020-12/schema", | ||
"$id": "https://w3id.org/ga4gh/schema/cat-vrs/1.x/json/FunctionConstraint", | ||
"title": "FunctionConstraint", | ||
"type": "object", | ||
"maturity": "draft", | ||
"description": "A categorical label of the function change that members of this categorical variant satisfies.", | ||
"properties": { | ||
"type": { | ||
"type": "string", | ||
"const": "FunctionConstraint", | ||
"default": "FunctionConstraint", | ||
"description": "MUST be \"FunctionConstraint\"" | ||
}, | ||
"functionConsequence": { | ||
"description": "A categorical label of the function change that members of this categorical variant satisfies, using ontology terms from [The Sequence Ontology](http://www.sequenceontology.org). ``SO:0002052`` refers to a [dominant negative variant](http://www.sequenceontology.org/browser/current_release/term/SO:0002052), a variant where the mutated gene product adversely affects the other (wild type) gene product. ``SO:0002054`` refers to a [loss of function variant](http://www.sequenceontology.org/browser/current_release/term/SO:0002054), a sequence variant whereby the gene product has diminished or abolished function. ``SO:0001561`` refers to a [polypeptide partial loss of function](http://www.sequenceontology.org/browser/current_release/term/SO:0001561), a sequence variant that causes some but not all loss of polypeptide function with respect to a reference sequence. ``SO:0002219`` refers to a [functionally normal](http://www.sequenceontology.org/browser/current_release/term/SO:0002219) variant, a sequence variant in which the function of a gene product is retained with respect to a reference. ``SO:0001557`` refers to a [polypeptide gain of function variant](http://www.sequenceontology.org/browser/current_release/term/SO:0001557), a sequence variant which causes gain of polypeptide function with respect to a reference sequence. ``SO:0002053`` refers to a [gain of function variant](http://www.sequenceontology.org/browser/current_release/term/SO:0002053), a sequence variant whereby new or enhanced function is conferred on the gene product.", | ||
"type": "string", | ||
"enum": [ | ||
"SO:0002052", | ||
"SO:0002054", | ||
"SO:0001561", | ||
"SO:0002219", | ||
"SO:0001557", | ||
"SO:0002053 | ||
] | ||
}, | ||
"description": { | ||
"description": "A free-text description of the function change.", | ||
"type": "string" | ||
} | ||
}, | ||
"required": [ | ||
"functionConsequence", | ||
"type" | ||
], | ||
"additionalProperties": false | ||
} |
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{ | ||
"$schema": "https://json-schema.org/draft/2020-12/schema", | ||
"$id": "https://w3id.org/ga4gh/schema/cat-vrs/1.x/json/GeneContextConstraint", | ||
"title": "GeneContextConstraint", | ||
"type": "object", | ||
"maturity": "draft", | ||
"description": "A free-text description of the gene context that members of this categorical variant satisfies.", | ||
"properties": { | ||
"type": { | ||
"type": "string", | ||
"const": "GeneContextConstraint", | ||
"default": "GeneContextConstraint", | ||
"description": "MUST be \"GeneContextConstraint\"" | ||
}, | ||
"geneContext": { | ||
"description": "A gene identifier", | ||
"type": "string" | ||
}, | ||
"description": { | ||
"description": "A free-text description of the gene context.", | ||
"type": "string" | ||
}, | ||
"relations": { | ||
"type": "array", | ||
"ordered": false, | ||
"items": { | ||
"type": string, | ||
"enum": [ | ||
"genome_liftover", | ||
"transcript_projection" | ||
] | ||
}, | ||
"description": "Defined relationships from which members relate to the defining location. ``sequence_liftover`` refers to variants or locations that represent a congruent concept on a differing assembly of a human genome (e.g. \"GRCh37\" and \"GRCh38\") or gene (e.g. Locus Reference Genomic) sequence. ``transcript_projection`` refers to variants or locations that occur on transcripts projected from the defined genomic concept." | ||
} | ||
}, | ||
"required": [ | ||
"geneContext", | ||
"type" | ||
], | ||
"additionalProperties": false | ||
} |
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